esv3817405
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:delins
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):1000 Genomes Project Consortium et al. 2015
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 599 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 600 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3817405 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 3,073,520 | 3,073,520 |
| esv3817405 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 2,991,561 | 2,991,561 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16861960 | delins | SAMN00779937 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,210 |
| essv16861961 | delins | SAMN00001676 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,811 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16861960 | Remapped | Perfect | NC_000023.11:g.307 3520delins91 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 3,073,520 | 3,073,520 |
| essv16861961 | Remapped | Perfect | NC_000023.11:g.307 3520delins91 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 3,073,520 | 3,073,520 |
| essv16861960 | Submitted genomic | NC_000023.10:g.299 1561delinsTATACTAT ATAGTATATAGTATATAG TATATAGTATATAGTATA TAGTATATACTATATAGT ATATAGTATATAGTATAT AGTATATACTA | GRCh37 (hg19) | NC_000023.10 | ChrX | 2,991,561 | 2,991,561 | ||
| essv16861961 | Submitted genomic | NC_000023.10:g.299 1561delinsTATACTAT ATAGTATATAGTATATAG TATATAGTATATAGTATA TAGTATATACTATATAGT ATATAGTATATAGTATAT AGTATATACTA | GRCh37 (hg19) | NC_000023.10 | ChrX | 2,991,561 | 2,991,561 |